An outrageous letter on the New York Times minimizes the physician's job and slaps in the face people with rare conditions.

An interesting discussion, but this type of article only feeds our obsession with esoteric and unusual conditions.

I disagree. First of all let me highlight that Wilson disease isn't an esoteric and unusual condition. It is 100% curable if diagnosed by time, devastating if not. DEVASTATING, yes. For example in Sardinia, Italy there are 10 - 20 cases each year / 1.5 million inhabitants. In a general population 1/90 are heterozigous for a mutation.

The author of this arrogant statement calls "obsession" what instead I believe is the physicians primary job: to be meticulous and to suspect conditions that if diagnosed on time can make people with a certain condition live a healthy and fulfilling life. Rare conditions have the same dignity of other diseases with a "high prevalence".

There’s a common saying: When you hear hoof beats, think horses, not zebras. Unfortunately, doctors and the lay public are automatically thinking zebras as a first reaction. What’s the worst-case scenario? What test can we order to rule out a tumor, growth or genetic mutation?

In what medical school do they teach that saying?

For two months a pediatrician has told parents that her baby had just a bad cold because she coughed at night. One night she coughed more than usual and at the emergency room she was diagnosed with a dilatative cardiomyopathy.

A young women was feverish and lost weight, felt tired and sad for months. Her physician had continuously diagnosed flu and depression. She died of tuberculosis after months of reassurances that everything was going to be fine.

It's not always flu and cold. And people die because of superficial reassurances.

It’s a sad state of affairs when we can’t even manage the most basic medical conditions properly, while glorifying rare and unusual conditions.

This is a despicable slap in the face to all the people striving with a rare condition

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